X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study.Muscle Nerve. 1988 Nov; 11(11):1154-6.MN
Abstract
A large CMT family with 5 affected males and 10 affected females of 37 members in four generations was investigated by recombinant DNA studies. The proband patient in his original description of the pedigree indicated male-to- male transmission in one of his relatives, suggesting autosomal dominant inheritance. The genetic linkage study between the CMT locus and the loci of six markers mapped on chromosome 1 (FY, APCS, AT3, REN, APOA2, and GBA) gave negative results. These findings prompted further pedigree investigation which proved that male-to-male transmission was not present. A genetic linkage study with DXYS1, which is a DNA marker mapped on the long arm of the chromosome X, revealed tight linkage with z = 3.15 at theta = 0.10.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Language
eng
PubMed ID
3226432
Citation
Ionasescu, V V., et al. "X-linked Dominant Charcot-Marie-Tooth Neuropathy With 15 Cases in a Family Genetic Linkage Study." Muscle & Nerve, vol. 11, no. 11, 1988, pp. 1154-6.
Ionasescu VV, Burns TL, Searby C, et al. X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study. Muscle Nerve. 1988;11(11):1154-6.
Ionasescu, V. V., Burns, T. L., Searby, C., & Ionasescu, R. (1988). X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study. Muscle & Nerve, 11(11), 1154-6.
Ionasescu VV, et al. X-linked Dominant Charcot-Marie-Tooth Neuropathy With 15 Cases in a Family Genetic Linkage Study. Muscle Nerve. 1988;11(11):1154-6. PubMed PMID: 3226432.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study.
AU - Ionasescu,V V,
AU - Burns,T L,
AU - Searby,C,
AU - Ionasescu,R,
PY - 1988/11/1/pubmed
PY - 1988/11/1/medline
PY - 1988/11/1/entrez
SP - 1154
EP - 6
JF - Muscle & nerve
JO - Muscle Nerve
VL - 11
IS - 11
N2 - A large CMT family with 5 affected males and 10 affected females of 37 members in four generations was investigated by recombinant DNA studies. The proband patient in his original description of the pedigree indicated male-to- male transmission in one of his relatives, suggesting autosomal dominant inheritance. The genetic linkage study between the CMT locus and the loci of six markers mapped on chromosome 1 (FY, APCS, AT3, REN, APOA2, and GBA) gave negative results. These findings prompted further pedigree investigation which proved that male-to-male transmission was not present. A genetic linkage study with DXYS1, which is a DNA marker mapped on the long arm of the chromosome X, revealed tight linkage with z = 3.15 at theta = 0.10.
SN - 0148-639X
UR - https://www.unboundmedicine.com/medline/citation/3226432/X_linked_dominant_Charcot_Marie_Tooth_neuropathy_with_15_cases_in_a_family_genetic_linkage_study_
L2 - https://doi.org/10.1002/mus.880111108
DB - PRIME
DP - Unbound Medicine
ER -